All terms in DOID

Label Id Description
Joubert syndrome 20 DOID_0110989 [A Joubert syndrome that has_material_basis_in compound heterozygous mutation in the TMEM231 gene on chromosome 16q23.]
ascariasis DOID_456 [A parasitic helminthiasis infectious disease that involves infection of the intestine with the nematode Ascaris lumbricoides. Larvae migrating through the lungs cause cough, wheezing and hemoptysis. Bowel or biliary obstruction causes cramping abdominal pain, nausea, and vomiting. Peritonitis, enlargement of the liver or spleen, toxicity and pneumonia are observed when larvae get into the portal circulation.]
visual verbal agnosia DOID_0060156 [An agnosia that is a loss of the ability to comprehending the meaning of written words.]
visual agnosia DOID_0060155 [An agnosia that is a loss of the ability to visually recognize objects.]
verbal auditory agnosia DOID_0060154 [An agnosia that is a loss of the ability to recognising spoken words as semantically meaningful.]
topographical agnosia DOID_0060153 [An agnosia that is a loss of the ability to rely on visual cues to guide them directionally due to the inability to recognise objects.]
time agnosia DOID_0060152 [An agnosia that is a loss of the ability to comprehend the succession and duration of events.]
tactile agnosia DOID_0060151 [An agnosia that is a loss of the ability to recognize or identify objects by touch alone.]
astereognosia DOID_0060150 [An agnosia that is the loss of the ability to recognize objects by touch based on its texture, size and weight.]
social emotional agnosia DOID_0060149 [An agnosia that is a loss of the ability to perceive facial expression, body language and intonation, rendering them unable to non-verbally perceive people's emotions and limiting that aspect of social interaction.]
simultanagnosia DOID_0060148 [An agnosia that is a loss of the ability to recognize a whole image or scene while retianing the ability to recognize objects or details in their visual field one at a time.]
semantic agnosia DOID_0060147 [An agnosia that is a loss of the ability to visually recognise an object while maintaining the use of non-visual sensory systems such as feeling, tapping, smelling, rocking or flicking the object to recognise the object.]
phonagnosia DOID_0060146 [An agnosia that is a loss of the ability to recognize familiar voices.]
brachydactyly type B2 DOID_0110975 [A brachydactyly characterized by hypoplasia/aplasia of distal phalanges, distal symphalangism, fusion of carpal/tarsal bones, and partial cutaneous syndactyly that has_material_basis_in mutations in the NOG gene on chromosome 17q22.]
brachydactyly type E2 DOID_0110976 [A characterized byautosomal dominant inheritance of short stature, tooth abnormalities, and short metacarpals and metatarsals that has_material_basis_in heterozygous mutation in the PTHLH gene on chromosome 12p.]
Mononen-Karnes-Senac syndrome DOID_0110973 [A brachydactyly characterized by short, abducted thumbs and great toes.]
brachydactyly type A1B DOID_0110974 [A brachydactyly type A1 characterized by shortened middle phalanges of all the digits and shortened proximal phalanges of the thumbs and big toes but normal stature that has_material_basis_in variation in the chromosome region 5p13.3-p13.2.]
brachydactyly type A1 DOID_0110964 [A brachydactyly characterized by rudimentary or fused middle phalanges of all the digits and shortened proximal phalanges of the thumbs and big toes.]
obsolete head neoplasm DOID_449
brachydactyly type D DOID_0110971 [A brachydactyly characterized by short and broad terminal phalanges of the thumbs and big toes that has_material_basis_in mutation in the HOXD13 gene on chromosome 2q31.1.]